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Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
Duchenne muscular dystrophy. P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length.
Deletion on a chromosome. In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. [1]
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Robertsonian translocation (ROB) is a chromosomal abnormality where the entire long arms of two different chromosomes become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. [1] It does not usually cause medical problems, though some people may produce gametes ...
Gene mapping or genome mapping describes the methods used to identify the location of a gene on a chromosome and the distances between genes. [2][3] Gene mapping can also describe the distances between different sites within a gene. The essence of all genome mapping is to place a collection of molecular markers onto their respective positions ...
In 1973, M. J. D. White, then at the end of a long career investigating karyotypes, gave an interesting summary of the distribution of chromosome polymorphism. "It is extremely difficult to get an adequate idea as to what fraction of the species of eukaryote organisms actually are polymorphic for structural rearrangements of the chromosomes.
The Boveri–Sutton chromosome theory (also known as the chromosome theory of inheritance or the Sutton–Boveri theory) is a fundamental unifying theory of genetics which identifies chromosomes as the carriers of genetic material. [ 1 ][ 2 ][ 3 ] It correctly explains the mechanism underlying the laws of Mendelian inheritance by identifying ...